Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33945 | 102058;102059;102060 | chr2:178534782;178534781;178534780 | chr2:179399509;179399508;179399507 |
| N2AB | 32304 | 97135;97136;97137 | chr2:178534782;178534781;178534780 | chr2:179399509;179399508;179399507 |
| N2A | 31377 | 94354;94355;94356 | chr2:178534782;178534781;178534780 | chr2:179399509;179399508;179399507 |
| N2B | 24880 | 74863;74864;74865 | chr2:178534782;178534781;178534780 | chr2:179399509;179399508;179399507 |
| Novex-1 | 25005 | 75238;75239;75240 | chr2:178534782;178534781;178534780 | chr2:179399509;179399508;179399507 |
| Novex-2 | 25072 | 75439;75440;75441 | chr2:178534782;178534781;178534780 | chr2:179399509;179399508;179399507 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATC
- RefSeq wild type template codon: TAG
- Domain: Kinase-1
- Domain position: 133
- Q(SASA): 0.0892
- Predicted PPI site: N
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | None | None | None | N | None | 0.698 | 0.767837362252 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| I/V | rs1356126685  |
-1.872 | None | N | None | 0.268 | 0.59589940523 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs1356126685 |
-1.872 | None | N | None | 0.268 | 0.59589940523 | gnomAD-4.0.0 | 6.37314E-06 | None | None | None | None | N | None | 5.65803E-05 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 5.71625E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9691 | likely_pathogenic | 0.9592 | pathogenic | -2.999 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9706 | likely_pathogenic | 0.9706 | pathogenic | -2.246 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9983 | likely_pathogenic | 0.9968 | pathogenic | -3.806 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9955 | likely_pathogenic | 0.9922 | pathogenic | -3.51 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.7803 | likely_pathogenic | 0.745 | pathogenic | -1.861 | Destabilizing | None | None | None | None | N | 0.520791175 | None | None | N |
| I/G | 0.9971 | likely_pathogenic | 0.9951 | pathogenic | -3.586 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9934 | likely_pathogenic | 0.9903 | pathogenic | -3.203 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.9886 | likely_pathogenic | 0.983 | pathogenic | -2.561 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.4021 | ambiguous | 0.3894 | ambiguous | -1.247 | Destabilizing | None | None | None | None | N | 0.477496184 | None | None | N |
| I/M | 0.405 | ambiguous | 0.3977 | ambiguous | -1.273 | Destabilizing | None | None | None | None | N | 0.479512767 | None | None | N |
| I/N | 0.9729 | likely_pathogenic | 0.9599 | pathogenic | -3.193 | Highly Destabilizing | None | None | None | None | D | 0.526116531 | None | None | N |
| I/P | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.82 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.9896 | likely_pathogenic | 0.9858 | pathogenic | -2.916 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.979 | likely_pathogenic | 0.9703 | pathogenic | -2.357 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.9752 | likely_pathogenic | 0.9658 | pathogenic | -3.766 | Highly Destabilizing | None | None | None | None | D | 0.525863041 | None | None | N |
| I/T | 0.9405 | likely_pathogenic | 0.9337 | pathogenic | -3.32 | Highly Destabilizing | None | None | None | None | N | 0.495984407 | None | None | N |
| I/V | 0.2566 | likely_benign | 0.2569 | benign | -1.82 | Destabilizing | None | None | None | None | N | 0.473551802 | None | None | N |
| I/W | 0.9947 | likely_pathogenic | 0.9929 | pathogenic | -2.358 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.9683 | likely_pathogenic | 0.9569 | pathogenic | -2.117 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.